Related gene-specific medical variations for Gene (Select 100128977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3448758	NM_175882.3(SPPL2C):c.224C>G (p.Ser75Cys)	MAPT-AS1, SPPL2C (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448757	NM_175882.3(SPPL2C):c.1309T>G (p.Cys437Gly)	MAPT-AS1, SPPL2C (C437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448756	NM_175882.3(SPPL2C):c.11T>G (p.Leu4Arg)	MAPT-AS1, SPPL2C (L4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448755	NM_175882.3(SPPL2C):c.1218G>C (p.Gln406His)	MAPT-AS1, SPPL2C (Q406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448754	NM_175882.3(SPPL2C):c.632A>T (p.Asn211Ile)	MAPT-AS1, SPPL2C (N211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448753	NM_175882.3(SPPL2C):c.1339G>A (p.Gly447Ser)	MAPT-AS1, SPPL2C (G447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448752	NM_175882.3(SPPL2C):c.1568G>T (p.Ser523Ile)	MAPT-AS1, SPPL2C (S523I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448751	NM_175882.3(SPPL2C):c.732T>A (p.Asn244Lys)	MAPT-AS1, SPPL2C (N244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448750	NM_175882.3(SPPL2C):c.1954G>A (p.Ala652Thr)	MAPT-AS1, SPPL2C (A652T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448749	NM_175882.3(SPPL2C):c.1738A>G (p.Thr580Ala)	MAPT-AS1, SPPL2C (T580A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448748	NM_175882.3(SPPL2C):c.1862C>T (p.Ala621Val)	MAPT-AS1, SPPL2C (A621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322355	NM_175882.3(SPPL2C):c.1420G>C (p.Val474Leu)	MAPT-AS1, SPPL2C (V474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322354	NM_175882.3(SPPL2C):c.938C>T (p.Pro313Leu)	MAPT-AS1, SPPL2C (P313L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322353	NM_175882.3(SPPL2C):c.506C>A (p.Ala169Asp)	MAPT-AS1, SPPL2C (A169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322352	NM_175882.3(SPPL2C):c.862G>A (p.Gly288Ser)	MAPT-AS1, SPPL2C (G288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322351	NM_175882.3(SPPL2C):c.1640A>T (p.Gln547Leu)	MAPT-AS1, SPPL2C (Q547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322350	NM_175882.3(SPPL2C):c.152G>A (p.Arg51Gln)	MAPT-AS1, SPPL2C (R51Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322349	NM_175882.3(SPPL2C):c.1938G>T (p.Glu646Asp)	MAPT-AS1, SPPL2C (E646D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322348	NM_175882.3(SPPL2C):c.1390G>A (p.Val464Met)	MAPT-AS1, SPPL2C (V464M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169357	NM_175882.3(SPPL2C):c.643C>T (p.Arg215Trp)	MAPT-AS1, SPPL2C (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169356	NM_175882.3(SPPL2C):c.616G>A (p.Gly206Ser)	MAPT-AS1, SPPL2C (G206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169354	NM_175882.3(SPPL2C):c.47T>G (p.Ile16Ser)	MAPT-AS1, SPPL2C (I16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169353	NM_175882.3(SPPL2C):c.46A>C (p.Ile16Leu)	MAPT-AS1, SPPL2C (I16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169352	NM_175882.3(SPPL2C):c.376G>A (p.Asp126Asn)	MAPT-AS1, SPPL2C (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169351	NM_175882.3(SPPL2C):c.359T>C (p.Ile120Thr)	MAPT-AS1, SPPL2C (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169350	NM_175882.3(SPPL2C):c.302G>A (p.Cys101Tyr)	MAPT-AS1, SPPL2C (C101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169349	NM_175882.3(SPPL2C):c.217G>A (p.Glu73Lys)	MAPT-AS1, SPPL2C (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169348	NM_175882.3(SPPL2C):c.1781C>G (p.Pro594Arg)	MAPT-AS1, SPPL2C (P594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169347	NM_175882.3(SPPL2C):c.1654G>A (p.Ala552Thr)	MAPT-AS1, SPPL2C (A552T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169346	NM_175882.3(SPPL2C):c.156C>A (p.Asp52Glu)	MAPT-AS1, SPPL2C (D52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169345	NM_175882.3(SPPL2C):c.1286T>G (p.Leu429Arg)	MAPT-AS1, SPPL2C (L429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169344	NM_175882.3(SPPL2C):c.1283G>A (p.Arg428Gln)	MAPT-AS1, SPPL2C (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169343	NM_175882.3(SPPL2C):c.1265T>G (p.Met422Arg)	MAPT-AS1, SPPL2C (M422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169341	NM_175882.3(SPPL2C):c.1178C>A (p.Thr393Asn)	MAPT-AS1, SPPL2C (T393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169340	NM_175882.3(SPPL2C):c.1097G>A (p.Arg366His)	MAPT-AS1, SPPL2C (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169339	NM_175882.3(SPPL2C):c.1096C>T (p.Arg366Cys)	MAPT-AS1, SPPL2C (R366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169338	NM_175882.3(SPPL2C):c.1036C>T (p.Arg346Cys)	MAPT-AS1, SPPL2C (R346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169337	NM_175882.3(SPPL2C):c.1024C>T (p.Arg342Cys)	MAPT-AS1, SPPL2C (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647850	NM_175882.3(SPPL2C):c.920G>A (p.Arg307Gln)	MAPT-AS1, SPPL2C (R307Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619385	NM_175882.3(SPPL2C):c.758C>T (p.Pro253Leu)	MAPT-AS1, SPPL2C (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610519	NM_175882.3(SPPL2C):c.214G>C (p.Gly72Arg)	MAPT-AS1, SPPL2C (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610165	NM_175882.3(SPPL2C):c.457C>G (p.Leu153Val)	MAPT-AS1, SPPL2C (L153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591041	NM_175882.3(SPPL2C):c.1694C>G (p.Thr565Ser)	MAPT-AS1, SPPL2C (T565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528429	NM_175882.3(SPPL2C):c.1855C>A (p.Pro619Thr)	MAPT-AS1, SPPL2C (P619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522305	NM_175882.3(SPPL2C):c.395C>G (p.Thr132Ser)	MAPT-AS1, SPPL2C (T132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521910	NM_175882.3(SPPL2C):c.1381C>T (p.Arg461Cys)	MAPT-AS1, SPPL2C (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513487	NM_175882.3(SPPL2C):c.529G>A (p.Ala177Thr)	MAPT-AS1, SPPL2C (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491804	NM_175882.3(SPPL2C):c.1103G>A (p.Arg368Gln)	MAPT-AS1, SPPL2C (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489168	NM_175882.3(SPPL2C):c.586G>A (p.Gly196Ser)	MAPT-AS1, SPPL2C (G196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478885	NM_175882.3(SPPL2C):c.43C>A (p.Leu15Ile)	MAPT-AS1, SPPL2C (L15I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408127	NM_175882.3(SPPL2C):c.644G>A (p.Arg215Gln)	MAPT-AS1, SPPL2C (R215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390368	NM_175882.3(SPPL2C):c.85G>A (p.Val29Met)	MAPT-AS1, SPPL2C (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387250	NM_175882.3(SPPL2C):c.245G>A (p.Arg82His)	MAPT-AS1, SPPL2C (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380327	NM_175882.3(SPPL2C):c.1756A>G (p.Ile586Val)	MAPT-AS1, SPPL2C (I586V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378297	NM_175882.3(SPPL2C):c.649C>T (p.Arg217Cys)	MAPT-AS1, SPPL2C (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372251	NM_175882.3(SPPL2C):c.28G>A (p.Val10Met)	MAPT-AS1, SPPL2C (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370156	NM_175882.3(SPPL2C):c.772G>A (p.Val258Met)	MAPT-AS1, SPPL2C (V258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364518	NM_175882.3(SPPL2C):c.772G>T (p.Val258Leu)	MAPT-AS1, SPPL2C (V258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359735	NM_175882.3(SPPL2C):c.1087G>A (p.Val363Ile)	MAPT-AS1, SPPL2C (V363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354974	NM_175882.3(SPPL2C):c.542C>A (p.Pro181His)	MAPT-AS1, SPPL2C (P181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349940	NM_175882.3(SPPL2C):c.940C>A (p.His314Asn)	MAPT-AS1, SPPL2C (H314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348049	NM_175882.3(SPPL2C):c.400C>A (p.Leu134Met)	MAPT-AS1, SPPL2C (L134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347688	NM_175882.3(SPPL2C):c.409C>A (p.Gln137Lys)	MAPT-AS1, SPPL2C (Q137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344625	NM_175882.3(SPPL2C):c.76G>A (p.Val26Met)	MAPT-AS1, SPPL2C (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334837	NM_175882.3(SPPL2C):c.2002A>C (p.Lys668Gln)	MAPT-AS1, SPPL2C (K668Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334836	NM_175882.3(SPPL2C):c.2000A>C (p.His667Pro)	MAPT-AS1, SPPL2C (H667P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333127	NM_175882.3(SPPL2C):c.1438T>C (p.Tyr480His)	MAPT-AS1, SPPL2C (Y480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331381	NM_175882.3(SPPL2C):c.61G>A (p.Gly21Arg)	MAPT-AS1, SPPL2C (G21R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326794	NM_175882.3(SPPL2C):c.1109C>T (p.Pro370Leu)	MAPT-AS1, SPPL2C (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306808	NM_175882.3(SPPL2C):c.1668C>A (p.His556Gln)	MAPT-AS1, SPPL2C (H556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301952	NM_175882.3(SPPL2C):c.871A>T (p.Ile291Phe)	MAPT-AS1, SPPL2C (I291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292853	NM_175882.3(SPPL2C):c.1971C>A (p.His657Gln)	MAPT-AS1, SPPL2C (H657Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292276	NM_175882.3(SPPL2C):c.314C>T (p.Thr105Met)	MAPT-AS1, SPPL2C (T105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287136	NM_175882.3(SPPL2C):c.983C>T (p.Ala328Val)	MAPT-AS1, SPPL2C (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284970	NM_175882.3(SPPL2C):c.28G>T (p.Val10Leu)	MAPT-AS1, SPPL2C (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283709	NM_175882.3(SPPL2C):c.665G>C (p.Gly222Ala)	MAPT-AS1, SPPL2C (G222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275496	NM_175882.3(SPPL2C):c.187G>A (p.Asp63Asn)	MAPT-AS1, SPPL2C (D63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264891	NM_175882.3(SPPL2C):c.635G>A (p.Arg212Gln)	MAPT-AS1, SPPL2C (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260563	NM_175882.3(SPPL2C):c.845T>C (p.Ile282Thr)	MAPT-AS1, SPPL2C (I282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255173	NM_175882.3(SPPL2C):c.1570C>T (p.Leu524Phe)	MAPT-AS1, SPPL2C (L524F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247194	NM_175882.3(SPPL2C):c.919C>T (p.Arg307Trp)	MAPT-AS1, SPPL2C (R307W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245582	NM_175882.3(SPPL2C):c.1630G>A (p.Gly544Ser)	MAPT-AS1, SPPL2C (G544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238817	NM_175882.3(SPPL2C):c.1435G>T (p.Ala479Ser)	MAPT-AS1, SPPL2C (A479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223616	NM_175882.3(SPPL2C):c.800T>G (p.Met267Arg)	MAPT-AS1, SPPL2C (M267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214164	NM_175882.3(SPPL2C):c.511G>A (p.Val171Ile)	MAPT-AS1, SPPL2C (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205430	NM_175882.3(SPPL2C):c.1467G>A (p.Met489Ile)	MAPT-AS1, SPPL2C (M489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288972	NM_175882.3(SPPL2C):c.368G>A (p.Arg123Gln)	MAPT-AS1, SPPL2C (R123Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1168309	NM_001377265.1(MAPT):c.-18+124C>G	MAPT, MAPT-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 787567	NM_175882.3(SPPL2C):c.137A>G (p.Tyr46Cys)	MAPT-AS1, SPPL2C (Y46C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787458	NM_175882.3(SPPL2C):c.528C>T (p.Tyr176=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787457	NM_175882.3(SPPL2C):c.516C>T (p.Arg172=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782549	NM_175882.3(SPPL2C):c.1612G>A (p.Gly538Ser)	MAPT-AS1, SPPL2C (G538S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781369	NM_175882.3(SPPL2C):c.229C>T (p.His77Tyr)	MAPT-AS1, SPPL2C (H77Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780443	NM_175882.3(SPPL2C):c.603C>T (p.Gly201=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779023	NM_175882.3(SPPL2C):c.1982T>G (p.Leu661Arg)	MAPT-AS1, SPPL2C (L661R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769920	NM_175882.3(SPPL2C):c.202C>T (p.Pro68Ser)	MAPT-AS1, SPPL2C (P68S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747822	NM_175882.3(SPPL2C):c.639A>G (p.Leu213=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732305	NM_175882.3(SPPL2C):c.2020G>A (p.Val674Ile)	MAPT-AS1, SPPL2C (V674I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731815	NM_175882.3(SPPL2C):c.263C>T (p.Pro88Leu)	MAPT-AS1, SPPL2C (P88L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729537	NM_175882.3(SPPL2C):c.992G>T (p.Cys331Phe)	MAPT-AS1, SPPL2C (C331F)	Single nucleotide variant (missense variant)	not provided	GBenign

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